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22q11 Deletion Syndrome +
acrocardiofacial syndrome
acromesomelic dysplasia +
Agenesis of Corpus Callosum with Facial Anomalies and Robin Sequence
Al Gazali Aziz Salem Syndrome
Al Gazali Sabrinathan Nair Syndrome
Alaninuria with Microcephaly, Dwarfism, Enamel Hypoplasia, and Diabetes Mellitus
Alopecia Contractures Dwarfism Mental Retardation
Amino Aciduria with Mental Deficiency, Dwarfism, Muscular Dystrophy, Osteoporosis, and Acidosis
Aortico-Ventricular Tunnel
Aplasia Cutis Congenita, Congenital Heart Defect, and Frontonasal Cysts
arrhythmogenic right ventricular cardiomyopathy +
Arthrogryposis, Cleft Palate, Craniosynostosis, and Impaired Intellectual Development
Asymmetric Short Stature Syndrome
Bagatelle Cassidy Syndrome
Bainbridge-Ropers syndrome
Beaulieu-Boycott-Innes Syndrome
Beemer Ertbruggen Syndrome
Bilateral Amastia with Ureteral Triplication and Dysmorphism
Bird Headed Dwarfism Montreal Type
Bosch-Boonstra-Schaaf optic atrophy syndrome
brachycephaly, trichomegaly, and developmental delay
Brachydactylous Dwarfism Mseleni Type
Brachymetapody-Anodontia-Hypotrichosis-Albinoidism
Bullous Dystrophy, Hereditary Macular Type
Cantu Sanchez-Corona Fragoso Syndrome
Cardiac Valvular Dysplasia +
Cardiac-Urogenital Syndrome
Cardioacrofacial Dysplasia +
Cardioauditory Syndrome of Sanchez Cascos
cardiofaciocutaneous syndrome +
Cardiofacioneurodevelopmental Syndrome
Cerebellar Atrophy with Seizures and Variable Developmental Delay
CEREBELLAR ATROPHY, DEVELOPMENTAL DELAY, AND SEIZURES
CEREBELLAR DYSFUNCTION, IMPAIRED INTELLECTUAL DEVELOPMENT, AND HYPOGONADOTROPIC HYPOGONADISM
cerebellofaciodental syndrome
Chitayat Moore Del Bigio Syndrome
Chitty Hall Webb Syndrome
Chondrodysplasia Calcificans Metaphysealis
chromosome 13q14 deletion syndrome
chromosome 17p13.3 duplication syndrome
chromosome 1q21.1 duplication syndrome
chromosome 3q29 microdeletion syndrome
chromosome 6pter-p24 deletion syndrome
chromosome Xp11.23-p11.22 duplication syndrome
CLEFT LIP AND PALATE-CRANIOFACIAL DYSMORPHISM-CONGENITAL HEART DEFECT-HEARING LOSS SYNDROME
cleft palate, cardiac defects, and intellectual disability
Cleft Palate, Proliferative Retinopathy, and Developmental Delay
CONGENITAL HEART DEFECTS AND ECTODERMAL DYSPLASIA
CONGENITAL HEART DEFECTS AND SKELETAL MALFORMATIONS SYNDROME
congenital heart defects, dysmorphic facial features, and intellectual developmental disorder
congenital heart defects, hamartomas of tongue, and polysyndactyly
Congenital Heart Defects, Multiple Types +
Congenital Heart Defects, X-Linked +
congenital hypothyroidism +
Congenital Hypotonia, Epilepsy, Developmental Delay, and Digital Anomalies
congenital limbs-face contractures-hypotonia-developmental delay syndrome
Conotruncal Cardiac Defects
Coronary Vessel Anomalies +
CRANIAL DYSINNERVATION DISORDER, CONGENITAL, WITH ABSENT CORNEAL REFLEX AND DEVELOPMENTAL DELAY
Cranioacrofacial Syndrome
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, and Growth and Developmental Retardation
Craniofaciofrontodigital Syndrome
De Sanctis-Cacchione syndrome
Deafness, Congenital Heart Defects, and Posterior Embryotoxon
Der Kaloustian Mcintosh Silver Syndrome
DEVELOPMENTAL DELAY WITH DYSMORPHIC FACIES AND DENTAL ANOMALIES
Developmental Delay with Hypotonia, Myopathy, and Brain Abnormalities
Developmental Delay with or without Dysmorphic Facies and Autism
DEVELOPMENTAL DELAY WITH OR WITHOUT INTELLECTUAL IMPAIRMENT OR BEHAVIORAL ABNORMALITIES
DEVELOPMENTAL DELAY, BEHAVIORAL ABNORMALITIES, AND NEUROPSYCHIATRIC DISORDERS
developmental delay, hypotonia, and impaired language
DEVELOPMENTAL DELAY, HYPOTONIA, MUSCULOSKELETAL DEFECTS, AND BEHAVIORAL ABNORMALITIES
developmental delay, hypotrophy, and dysmorphic features without Moebius syndrome
DEVELOPMENTAL DELAY, IMPAIRED GROWTH, DYSMORPHIC FACIES, AND AXONAL NEUROPATHY
DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES
DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES, WITH OR WITHOUT SEIZURES
DEVELOPMENTAL DELAY, INTELLECTUAL DISABILITY, OBESITY, AND DYSMORPHIC FEATURES
Developmental Delay, Language Impairment, and Ocular Abnormalities
dextro-looped transposition of the great arteries +
Diabetes, Deafness, Developmental Delay, and Short Stature Syndrome
Diencephalic-Mesencephalic Junction Dysplasia Syndrome 2
diphthamide deficiency syndrome +
Disproportionate Short Stature with Ptosis and Valvular Heart Lesions
Distichiasis with Congenital Anomalies of the Heart and Peripheral Vasculature
Dwarfism Stiff Joint Ocular Abnormalities
Dwarfism with Tall Vertebrae
Dwarfism, Low-Birth-Weight Type, with Unresponsiveness to Growth Hormone
Dyggve-Melchior-Clausen disease +
Dyssegmental Dysplasia with Glaucoma
ECTODERMAL DYSPLASIA/SHORT STATURE SYNDROME
Ectrodactyly Cardiopathy Dysmorphism
Ectrodactyly of Lower Limbs, Congenital Heart Defect, and Micrognathia
Ellis Yale Winter Syndrome
Faciocardiomelic Syndrome
Faciocardiorenal Syndrome
Familial Anomalous Origin of Right Pulmonary Artery
Familial Dwarfism with Muscle Spasms
Familial Synovial Chondromatosis with Dwarfism
Forsythe-Wakeling Syndrome
GARG-MISHRA PROGEROID SYNDROME
Gay Feinmesser Cohen Syndrome
Genito Palato Cardiac Syndrome
geroderma osteodysplasticum
GLOBAL DEVELOPMENTAL DELAY WITH OR WITHOUT IMPAIRED INTELLECTUAL DEVELOPMENT
GLOBAL DEVELOPMENTAL DELAY WITH SPEECH AND BEHAVIORAL ABNORMALITIES
GLOBAL DEVELOPMENTAL DELAY, ABSENT OR HYPOPLASTIC CORPUS CALLOSUM, AND DYSMORPHIC FACIES
Global Developmental Delay, Lung Cysts, Overgrowth, and Wilms Tumor
Global Developmental Delay, Progressive Ataxia, and Elevated Glutamine
Glycosylphosphatidylinositol Biosynthesis Defect 25
Growth and Developmental Retardation, Ocular Ptosis, Cardiac Defect, and Anal Atresia
Growth Hormone Insensitivity with Immune Dysregulation +
Growth Retardation, Developmental Delay, Coarse Facies, and Early Death
Grubben de Cock Borghgraef Syndrome
Heart Defects Limb Shortening
Heart-Hand Syndrome, Slovenian Type
Heyn-Sproul-Jackson Syndrome
HIATT-NEU-COOPER NEURODEVELOPMENTAL SYNDROME
Hirschsprung Disease with Heart Defects, Laryngeal Anomalies, and Preaxial Polydactyly
Hirschsprung Disease, Cardiac Defects, and Autonomic Dysfunction
Hittner Hirsch Kreh Syndrome
Ho Kaufman Mcalister Syndrome
Holzgreve-Wagner-Rehder syndrome
hypermethioninemia due to adenosine kinase deficiency
hypertelorism, microtia, facial clefting syndrome
HYPOPIGMENTATION, ORGANOMEGALY, AND DELAYED MYELINATION AND DEVELOPMENT
hypoplastic left heart syndrome +
hypoplastic right heart syndrome
hypotonia, ataxia, and delayed development syndrome
HYPOTONIA, ATAXIA, DEVELOPMENTAL DELAY, AND TOOTH ENAMEL DEFECT SYNDROME
Ichthyosis, Mental Retardation, Dwarfism, and Renal Impairment
Immunodeficiency 78 with Autoimmunity and Developmental Delay
IMMUNODEFICIENCY, DEVELOPMENTAL DELAY, AND HYPOHOMOCYSTEINEMIA
intellectual developmental disorder with abnormal behavior, microcephaly, and short stature
Intellectual Developmental Disorder with Cardiac Defects and Dysmorphic Facies
intellectual developmental disorder with short stature and behavioral abnormalities
INTELLECTUAL DEVELOPMENTAL DISORDER WITH SHORT STATURE, FACIAL ANOMALIES, AND SPEECH DEFECTS
isolated growth hormone deficiency +
Isolated Noncompaction of the Ventricular Myocardium +
JOINT LAXITY, SHORT STATURE, AND MYOPIA
Kasznica Carlson Coppedge Syndrome
Kenny-Caffey syndrome type 2
Keratosis Follicularis, Dwarfism, and Cerebral Atrophy
KOHLSCHUTTER-TONZ SYNDROME-LIKE
Laplane Fontaine Lagardere Syndrome
Larsen-like syndrome B3GAT3 type
Lethal Faciocardiomelic Dysplasia
LEUKOENCEPHALOPATHY, DEVELOPMENTAL DELAY, AND EPISODIC NEUROLOGIC REGRESSION SYNDROME
McKusick-Kaufman syndrome
McPherson Clemens Syndrome
Meacham Winn Culler Syndrome
Mehta Lewis Patton Syndrome
Membranous Subaortic Stenosis
Mental Retardation and Distinctive Facial Features with or without Cardiac Defects
Mental Retardation, Macrocephaly, Short Stature and Craniofacial Dysmorphism
Mesomelic Dwarfism of Hypoplastic Tibia and Radius Type
Mesomelic Dwarfism Reinhardt Pfeiffer Type
Metatropic Dwarfism, Type II
Mexican Cardiomelic Dysplasia
Microcephalic Osteodysplastic Primordial Dwarfism +
Microcephalic Primordial Dwarfism Toriello Type
Microcephaly Seizures Mental Retardation Heart Disorders
Microcephaly, Cataracts, Impaired Intellectual Development, and Dystonia with Abnormal Striatum
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, and Hyposegmented Lungs
MICROCEPHALY, DEVELOPMENTAL DELAY, AND BRITTLE HAIR SYNDROME
Microcephaly, Growth Retardation, Cataract, Hearing Loss, and Unusual Appearance
microcephaly, seizures, and developmental delay
Microcephaly, Short Stature, and Impaired Glucose Metabolism +
Microcephaly, Short Stature, and Polymicrogyria with or without Seizures
Midface Hypoplasia, Obesity, Developmental Delay, and Neonatal Hypotonia
Mitochondrial Progressive Myopathy with Congenital Cataract, Hearing Loss, and Developmental Delay
Mollica-Pavone-Antener Syndrome
Mosaic Variegated Aneuploidy Syndrome 5
Mosaic Variegated Aneuploidy Syndrome 6
NEURODEGENERATION WITH DEVELOPMENTAL DELAY, EARLY RESPIRATORY FAILURE, MYOCLONIC SEIZURES, AND BRAIN ABNORMALITIES
NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND GROSS MOTOR AND SPEECH DELAY
Neurodevelopmental Disorder with or without Anomalies of the Brain, Eye, or Heart
Non-Lissencephalic Cortical Dysplasia
Noncompaction of Left Ventricular Myocardium with Congenital Heart Defects
Noonan syndrome with multiple lentigines +
Obesity, Hyperphagia, and Developmental Delay
Oculopalatocerebral Syndrome
Oliver-McFarlane syndrome
OPTIC ATROPHY-ATAXIA-PERIPHERAL NEUROPATHY-GLOBAL DEVELOPMENTAL DELAY SYNDROME
Osteoporosis, Childhood- or Juvenile-Onset, with Developmental Delay
osteosclerotic metaphyseal dysplasia
otospondylomegaepiphyseal dysplasia, autosomal recessive
pachygyria, microcephaly, developmental delay, and dysmorphic facies, with or without seizures
pancreatic hypoplasia-diabetes-congenital heart disease syndrome
Partington Anderson Syndrome
patent ductus arteriosus +
Periventricular Nodular Heterotopia 7
Powell Chandra Saal Syndrome
PRIMORDIAL DWARFISM-IMMUNODEFICIENCY-LIPODYSTROPHY SYNDROME
Proportionate Dwarfism with Hip Dislocation
Pseudodiastrophic Dysplasia
Pulmonary Atresia with Intact Ventricular Septum
Rajab Interstitial Lung Disease with Brain Calcifications +
Refsum Disease with Increased Pipecolic Acidemia
Right Ventricle Hypoplasia
Roifman-Chitayat Syndrome
Rommen Mueller Sybert Syndrome
Sacral Meningocele Conotruncal Heart Defects
Seckel Like Syndrome Type Buebel
Short Limb Dwarfism Al Gazali Type
Short Stature and Facioauriculothoracic Malformations
Short Stature and Microcephaly with Genital Anomalies
SHORT STATURE WITH MICROCEPHALY AND DISTINCTIVE FACIES
Short Stature with Nonspecific Skeletal Abnormalities 1
SHORT STATURE, DAUBER-ARGENTE TYPE
Short Stature, Developmental Delay, and Congenital Heart Defects
Short Stature, Facial Dysmorphism, and Skeletal Anomalies with or without Cardiac Anomalies +
short stature, hearing loss, retinitis pigmentosa, and distinctive facies
Short Stature, Impaired Intellectual Development, Callosal Agenesis, Heminasal Hypoplasia, Microphthalmia, and Atypical Clefting
SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION
SHORT STATURE, OLIGODONTIA, DYSMORPHIC FACIES, AND MOTOR DELAY
SHORT STATURE-MICROGNATHIA SYNDROME
Short Stature-Obesity Syndrome
sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay
Silver-Russell syndrome +
Silverman-Handmaker type dyssegmental dysplasia
Simpson-Golabi-Behmel syndrome type 1
Singh Chhaparwal Dhanda Syndrome
SKELETAL DYSPLASIA, MILD, WITH JOINT LAXITY AND ADVANCED BONE AGE
Snijders Blok-Fisher Syndrome
Spondyloepiphyseal Dysplasia Tarda, Toledo Type
spondylometaepiphyseal dysplasia, short limb-hand type
spondylometaphyseal dysplasia Megarbane-Dagher-Melike type
Stiff Thumbs, with Brachydactyly Type A1 and Developmental Delay
Structural Heart Defects and Renal Anomalies Syndrome
succinic semialdehyde dehydrogenase deficiency
Tessadori-Bicknell-van Haaften neurodevelopmental syndrome 1
Testicular Anomalies with or without Congenital Heart Disease
Tetra Amelia with Ectodermal Dysplasia and Lacrimal Duct Abnormalities
Thoraco Limb Dysplasia Rivera Type
TRIOKINASE AND FMN CYCLASE DEFICIENCY SYNDROME
Tryptophanuria with Dwarfism
Unilateral Radioulnar Synostosis with Developmental Retardation and Hypotonia
Vater-Like Defects with Pulmonary Hypertension, Laryngeal Webs, and Growth Deficiency
Ventricular Extrasystoles Perodactyly Robin Sequence
Verloove-Vanhorick Brubakk Syndrome
Weill-Marchesani syndrome +
Wolff-Parkinson-White syndrome
X-linked cardiac valvular dysplasia
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